Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Erbb2'

226453

Institutional Source

Beutler Lab

Gene Symbol

Erbb2

Ensembl Gene

ENSMUSG00000062312

Gene Name

erb-b2 receptor tyrosine kinase 2

Synonyms

c-erbB2, c-neu, HER-2, HER2, Neu, ErbB-2, Neu oncogene

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98412470-98437716 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98420172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 53 (C53R)

Ref Sequence

ENSEMBL: ENSMUSP00000053897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058295]

AlphaFold

P70424

Predicted Effect

probably damaging
Transcript: ENSMUST00000058295
AA Change: C53R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: C53R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Recep_L_domain	52	174	2e-32	PFAM
FU	190	231	1.88e1	SMART
FU	233	276	1.03e-6	SMART
Pfam:Recep_L_domain	367	487	2.3e-23	PFAM
FU	502	551	3.08e-5	SMART
FU	558	607	3.97e-8	SMART
transmembrane domain	654	676	N/A	INTRINSIC
TyrKc	721	977	1.28e-126	SMART
low complexity region	1040	1080	N/A	INTRINSIC
low complexity region	1148	1163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158598

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,564,185	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,711,048	K10N	possibly damaging	Het
Aadat	T	A	8: 60,507,139	S40T	probably benign	Het
Abca13	A	G	11: 9,328,098	I3093V	probably benign	Het
Acacb	A	T	5: 114,245,890	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,168,017	S189I	probably benign	Het
Actr5	A	T	2: 158,632,293	M339L	probably benign	Het
Adcy1	A	T	11: 7,161,885	K917*	probably null	Het
Adgrg5	C	T	8: 94,942,067	R504C	probably benign	Het
Ago1	T	C	4: 126,460,453	H188R	probably benign	Het
Akap9	T	A	5: 3,975,685	C23*	probably null	Het
Ank3	T	C	10: 69,898,090	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,454,493	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,981,860	R84H	probably benign	Het
Arhgef10	A	G	8: 14,945,320	D7G	probably null	Het
Arid4b	A	G	13: 14,187,645	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,691,849	N727S	probably benign	Het
Baalc	G	T	15: 38,933,234		probably benign	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Chpf2	G	T	5: 24,591,276	V407L	probably benign	Het
Chrnb3	C	A	8: 27,386,811	N84K	probably damaging	Het
Cnot1	A	G	8: 95,724,593	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,621,993		probably null	Het
Cux1	T	A	5: 136,332,658	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,082,231	N286S	probably benign	Het
Dclre1b	T	C	3: 103,809,040	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,411,484	S221P	probably benign	Het
Dnah1	T	G	14: 31,279,123	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,711,804		probably null	Het
Exoc8	A	G	8: 124,895,480	V716A	probably benign	Het
Fam193a	T	A	5: 34,462,150	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,132	G310W	probably damaging	Het
Fcgbp	C	T	7: 28,120,360	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,757,532	P418L	probably benign	Het
Gjd2	T	C	2: 114,011,058	T313A	probably damaging	Het
Gm12695	T	A	4: 96,769,771	R54W	probably damaging	Het
Gm128	T	C	3: 95,240,740	D81G	possibly damaging	Het
Gm21834	A	G	17: 57,741,768	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,586,152		probably null	Het
Hcn1	C	T	13: 117,976,083	T861I	probably damaging	Het
Herc6	C	A	6: 57,625,976	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,120,167	L699P	probably damaging	Het
Kank4	T	C	4: 98,780,102	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,142,209	S295T	probably damaging	Het
Krt18	T	C	15: 102,029,500	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,949,204	I244V	unknown	Het
Leng1	T	G	7: 3,665,401	N16T	probably damaging	Het
Lss	A	G	10: 76,531,878	K15E	possibly damaging	Het
Mastl	G	T	2: 23,132,824	A629E	possibly damaging	Het
Mavs	G	C	2: 131,240,450	A85P	possibly damaging	Het
Nav3	T	C	10: 109,824,675	D678G	probably damaging	Het
Nsd3	T	G	8: 25,691,089	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,503,082	N118S	probably damaging	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1178	C	T	2: 88,391,538	T97M	possibly damaging	Het
Olfr429	T	A	1: 174,089,219	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,436,508	S281P	probably benign	Het
Pds5b	T	G	5: 150,748,190	I433R	probably damaging	Het
Peg3	T	C	7: 6,712,721	N117D	probably damaging	Het
Pfkm	A	T	15: 98,131,692	D728V	probably benign	Het
Phkb	T	C	8: 86,049,821		probably null	Het
Pkp4	T	C	2: 59,334,904	V704A	probably benign	Het
Ppfia2	T	A	10: 106,837,299	S501T	probably damaging	Het
Ptpru	T	C	4: 131,819,087	E284G	possibly damaging	Het
Ror1	C	T	4: 100,407,868	R180*	probably null	Het
Ryr3	T	A	2: 112,756,641	Y2666F	probably damaging	Het
Sec23a	C	A	12: 58,990,968		probably null	Het
Sertad3	C	T	7: 27,476,269	Q43*	probably null	Het
Setd2	C	T	9: 110,550,890	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,348,207	S177P	probably benign	Het
Skap1	T	C	11: 96,541,463	F86S	possibly damaging	Het
Slc8a2	T	C	7: 16,141,015	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,726,437	F329S	probably damaging	Het
Slx4ip	C	T	2: 137,066,205	L161F	possibly damaging	Het
Sox4	A	G	13: 28,952,781	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,970,264	S28R	probably benign	Het
St8sia2	C	T	7: 73,943,202	G369S	possibly damaging	Het
Swt1	T	C	1: 151,372,330	Y836C	probably damaging	Het
Taar7d	A	G	10: 24,028,006	D262G	probably benign	Het
Taar8b	T	A	10: 24,091,314	L327F	probably benign	Het
Tars	A	T	15: 11,393,194	L138*	probably null	Het
Tbcd	A	T	11: 121,453,670	D75V	probably damaging	Het
Tesc	A	G	5: 118,046,329	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,440,438	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,580,292	A95S	possibly damaging	Het
Tnr	T	C	1: 159,892,033	I960T	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,543,388	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,366,565		probably benign	Het
Triobp	C	A	15: 79,004,540	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,777,541	I116V	probably benign	Het
Ttc13	A	T	8: 124,672,211		probably null	Het
Usp34	A	T	11: 23,464,468	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,562,551	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,117,345	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,217,793	Y357C	probably damaging	Het
Zc3h6	T	G	2: 129,015,618	S686A	possibly damaging	Het
Zfp608	G	A	18: 54,988,314	P67L	probably benign	Het
Zyg11a	T	C	4: 108,192,047		probably benign	Het

Other mutations in Erbb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Erbb2	APN	11	98435630	missense	probably damaging	1.00
IGL01460:Erbb2	APN	11	98434539	missense	probably damaging	1.00
IGL01483:Erbb2	APN	11	98434539	missense	probably damaging	1.00
IGL01514:Erbb2	APN	11	98432919	missense	possibly damaging	0.94
IGL01520:Erbb2	APN	11	98434009	missense	probably benign	0.05
IGL03007:Erbb2	APN	11	98428993	splice site	probably benign
IGL03367:Erbb2	APN	11	98422875	splice site	probably null
Angular	UTSW	11	98422770	missense	probably damaging	0.98
PIT4544001:Erbb2	UTSW	11	98421039	missense	probably benign
R0234:Erbb2	UTSW	11	98436439	missense	probably benign	0.33
R0234:Erbb2	UTSW	11	98436439	missense	probably benign	0.33
R0388:Erbb2	UTSW	11	98427351	missense	possibly damaging	0.66
R0602:Erbb2	UTSW	11	98434271	missense	probably damaging	1.00
R1467:Erbb2	UTSW	11	98436175	nonsense	probably null
R1467:Erbb2	UTSW	11	98436175	nonsense	probably null
R1500:Erbb2	UTSW	11	98428978	missense	probably damaging	1.00
R1651:Erbb2	UTSW	11	98433457	missense	probably damaging	1.00
R1748:Erbb2	UTSW	11	98435335	missense	probably benign	0.06
R1807:Erbb2	UTSW	11	98428854	missense	probably damaging	1.00
R1861:Erbb2	UTSW	11	98412737	critical splice donor site	probably null
R1926:Erbb2	UTSW	11	98425164	missense	probably benign
R1998:Erbb2	UTSW	11	98428953	missense	probably damaging	1.00
R3147:Erbb2	UTSW	11	98434039	missense	probably damaging	1.00
R4022:Erbb2	UTSW	11	98435297	missense	probably benign	0.09
R4238:Erbb2	UTSW	11	98428043	missense	probably benign	0.01
R4239:Erbb2	UTSW	11	98428043	missense	probably benign	0.01
R4240:Erbb2	UTSW	11	98428043	missense	probably benign	0.01
R4633:Erbb2	UTSW	11	98432988	missense	possibly damaging	0.91
R4725:Erbb2	UTSW	11	98425144	missense	possibly damaging	0.71
R5093:Erbb2	UTSW	11	98427453	missense	probably damaging	1.00
R5306:Erbb2	UTSW	11	98428206	missense	probably benign	0.44
R5375:Erbb2	UTSW	11	98433412	missense	probably damaging	1.00
R5518:Erbb2	UTSW	11	98422770	missense	probably damaging	0.98
R5710:Erbb2	UTSW	11	98427080	missense	probably damaging	1.00
R5938:Erbb2	UTSW	11	98435571	missense	probably damaging	0.99
R6062:Erbb2	UTSW	11	98433249	missense	probably damaging	1.00
R6116:Erbb2	UTSW	11	98427399	missense	probably damaging	1.00
R6514:Erbb2	UTSW	11	98420146	missense	probably benign	0.03
R6556:Erbb2	UTSW	11	98436082	missense	possibly damaging	0.92
R6570:Erbb2	UTSW	11	98423047	missense	possibly damaging	0.88
R6578:Erbb2	UTSW	11	98428188	missense	probably damaging	1.00
R7141:Erbb2	UTSW	11	98427309	missense	probably damaging	1.00
R7686:Erbb2	UTSW	11	98435573	missense	probably benign
R8274:Erbb2	UTSW	11	98433896	missense	probably damaging	1.00
R8439:Erbb2	UTSW	11	98428972	missense	possibly damaging	0.89
R9142:Erbb2	UTSW	11	98422058	missense	probably damaging	1.00
R9287:Erbb2	UTSW	11	98435281	missense	probably damaging	0.98
R9489:Erbb2	UTSW	11	98420920	missense	possibly damaging	0.54
R9599:Erbb2	UTSW	11	98427390	missense	probably benign	0.04
R9605:Erbb2	UTSW	11	98420920	missense	possibly damaging	0.54
R9652:Erbb2	UTSW	11	98435986	missense	probably damaging	0.96
X0028:Erbb2	UTSW	11	98434301	missense	probably damaging	1.00
X0062:Erbb2	UTSW	11	98423120	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACTCTAGGCCCTGTGGATG -3'
(R):5'- AAAGGCACTCCTGATTGAGG -3'

Sequencing Primer
(F):5'- TCTGAGGTGACAGGACTCCAG -3'
(R):5'- CCTGATTGAGGAACCACAAGAG -3'

Posted On

2014-09-17